Search

The incidence of Osler–Weber–Rendu disease is low, ranging from 1 detected case per 50,000 to 1 per 100,000 population. The disease is hereditary, with autosomal dominant transmission, caused by pathogenic mutations in genes involved in angiogenesis. The disease has a pronounced clinical picture of multiple telangiectasias of the skin and mucous membranes and manifests as spontaneous bleeding. This scientific article presents a clinical analysis of a 65-year-old patient with a diagnosis of Osler–Weber–Rendu disease. Early identification of the manifestations of this disease and careful observation of the patient give a favorable prognosis of the course and prevent the development of severe complications.

Reportamos el caso de lactante con colestasis que fue diagnosticado como síndrome de Alagille sindrómico. La característica principal de la enfermedad es la escasez de conductos biliares. Es una enfermedad hereditaria, de transmisión autosómica dominante con penetración incompleta, secundaria a mutaciones en los genes JAG1 (más del 90%) y NOTCH21, que inducen una alteración del desarrollo embriológico que afecta a estructuras dependientes del mesodermo1.Describimos el caso y discutimos sus hallazgos clínicos y radiológicos.

Branchial arch anomalies can arise from the four first branchial arches, but the most encountered cases are from the second one. Second branchial arch cysts and abscesses occur mainly in older children or young adults while fistulae are discovered in young children. We report a case of complete second branchial arch fistula of Bailey III type with adult complaints of painful swelling and local reddishness followed by spontaneous discharge and disappearance of complaints. Diagnosis was based on ultrasound and confirmed by CT scan, with the classic “beak sign” visible on both exams. Three cases were encountered in the family, with no otologic or kidney symptoms, which is quite different from the classical branchiootorenal syndrome which associates severe inner ear and kidney congenital anomalies.

International audience; Purpose : Heritable thoracic aortic aneurysms and dissections (hTAAD) are life-threatening complications of well-known syndromic diseases or underdiagnosed nonsyndromic heritable forms (nshTAAD). Both have an autosomal dominant transmission and are genetically heterogeneous. Our objective was to describe the relevance of molecular diagnosis in these patients and the contribution of each gene in nshTAAD. Methods : Two hundred twenty-six consecutive nshTAAD probands, either young (

Reactive perforating collagenosis (RPC) is a rare form of dermatosis. It forms with perforating folliculitis, Kyrle's disease, and serpiginous perforating elastosis, which is a group of perforating dermatosis. RPC can be hereditary with autosomal dominant transmission or it can be acquired, which is usually observed in diabetics with chronic renal failure. Here we report a new observation in a 72-year-old woman treated by phototherapy with a favorable outcome.

Cleidocranial dysplasia (CCD) is a rare syndrome with an estimated prevalence of 1:1 000 000.[1 2][1] It has an autosomal dominant transmission with complete penetrance and variable expression, equally affecting men and women.[3][2] This skeletal disorder is caused by a mutation in the RUNX2 (CBFA1

Hidradenitis suppurativa is a chronic skin disease characterised by repeated skin abscesses with sinus tracts and scar formation. Currently, the aetiology and pathogenesis of hidradenitis suppurativa remain unclear. Genetic factors, immune disorders, hormonal abnormalities, skin-microbial dysbiosis, smoking, obesity and mechanical friction all influence hidradenitis suppurativa pathogenesis. Moreover, hidradenitis suppurativa has a familial subset with autosomal dominant transmission proposed and is related to a mutation of γ-secretase component genes. In this review, we analyse and summarise research progress regarding the relationship between the γ-secretase gene dysfunction and the pathogenesis of hidradenitis suppurativa.

Holt-Oram syndrome, also known as hand-heart syndrome, is classically described to have upper limb anomalies affecting the thumb and heart, mostly septal defects. The syndrome may occur sporadically but commonly follows autosomal dominant transmission. Most cases are caused by a mutation in the transcription factor gene TBX5, located on 12q24.1. Holt-Oram has 100% penetrance and variable expressivity. If the disorder is suspected prenatally, thorough evaluation of the fetal heart is warranted because more than 75% of fetuses are affected with congenital heart disease. Similarly, due to the upper extremity involvement, the fetal radius-ulna-hand complex needs to be evaluated. A multidisciplinary approach is imperative, including a geneticist, hand surgeon, pediatric cardiologist, and maternal-fetal medicine subspecialist.

Van der Woude syndrome (VWS) is an autosomal dominant malformation syndrome characterized by orofacial clefting (OFC) and lower lip pits. The clinical presentation of VWS is variable and can present as an isolated OFC, making it difficult to distinguish VWS cases from individuals with non-syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in several modestly sized cohorts with mixed results. In this study, we screened 1521 trios with presumed non-syndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and non-syndromic OFCs. We combined our results with other similar studies (totaling 2472 families) and conclude that causal IRF6 mutations are found in 0.24-0.44% of apparently non-syndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families with mixed types of OFCs and/or autosomal dominant transmission.

Brugada syndrome is a genetically determined familial disease with autosomal dominant transmission and variable penetrance, conferring a predisposition to sudden cardiac death due to ventricular arrhythmias. The syndrome is characterized by a typical electrocardiographic pattern in the right precordial leads. This article will focus on the new electrocardiographic features recently agreed on by expert consensus helping to identify this infequent electrocardiographic pattern.

We report a 45-year-old Japanese man with SCA19/22. Whole-exome sequencing revealed a heterozygous missense mutation (c.1169G>A, p.S390N) in the KCND3 gene. Although this mutation has been reported to cause SCA19 in a Dutch patient, a co-segregation study of the mutation has not been carried out. In the present family, since the S390M mutation was found in the patient but not in the unaffected siblings, we suspected co-segregation of this mutation with the disease in our family. Our patient presented with juvenile-onset pure cerebellar ataxia associated with pes cavus, which has not been previously described in SCA19/22. Thus, our patient would expand the clinical spectrum of SCA19/22. In the case of juvenile-onset pure cerebellar ataxia with autosomal dominant transmission, SCA19/22 should be considered.

Photosensitive epilepsy (PSE) is the most common form of human reflex epilepsy, affecting up to 10 % of children with epilepsy. Moreover, between 4 and 9 % of the population carries this risk factor, and may be unaware of this risk until an unfortunate stimulus might discover it [1].

Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

Trichilemmal cysts (TCs) can occur as sporadic lesions or in hereditary-familial settings with autosomal dominant transmission. These entities have not been widely analyzed in their peculiar aspects yet. The aim of this study was to describe a cohort of patients with diagnosis of TCs through a clinical and biomolecular characterization, intended to highlight some effective diagnostic criteria for their identification. Among 149 cases of this study, 24 cases of TCs (16.1%) arose in patients with at least one first-degree relative with diagnosis of TCs. Peculiar findings concerning hereditary lesions included the multiple presentation with an early onset age. On the basis of clinical evaluation, we propose a panel of clinical and histologic criteria for the diagnosis of hereditary TCs, which includes: (i) the diagnosis of TCs in at least two first-degree relatives or in three first- or second-degree relatives in two consecutive generations; (ii) at least one of the patients with TCs diagnosed 5-cm lesions) or rare histopathologic features (proliferating and ossifying) TCs.

In congenital erythroid hypoplasia (Diamond-Blackfan syndrome) a genetic transmission has been described in only a few cases. We report a family where the evidence points to an autosomal dominant mode of inheritance, the first report of this kind where the father has had documented anaemia in infancy. The literature is reviewed.

A family is described in which a form of myeloproliferative disease involving the megakaryocytic cell line occurs in three generations, resulting in thrombocytosis in several members. An autosomal dominant transmission with variable penetrance is proposed, based on the distribution of involved members in the pedigree. Two family members appeared to have an abnormal chromosome 7, which is frequently observed in patients with hematological disorders. It is our opinion that the chromosomal aberration is primarily related to the mutagenicity of the cytostatic treatment, although a primary defect cannot be fully excluded.

Periventricular nodular heterotopia is a common malformation of cortical development in which the migration of developing neurons destined for the cerebral cortex is abbreviated. Bilateral periventricular nodular heterotopia is most commonly an X-linked disorder that involves mutations in the filamin A (FLNA) gene, but an autosomal recessive form and sporadic forms have been identified. To our knowledge, autosomal dominant transmission of isolated periventricular nodular heterotopia has not been reported. Periventricular nodular heterotopia has a heterogeneous phenotype, associated commonly with seizure disorder, and more recently with reading deficits and visual-spatial deficits in some patients. We present a father and son with bilateral periventricular nodular heterotopia and similar visual–spatial learning deficits, consistent with nonverbal learning disability.

Summary. The von Willebrand factor antigen (factor VIII-related antigen, VIIIR:Ag) multimer pattern has been analysed by SDS-agarose electrophoresis of plasmas from 116 patients (47 families) with von Willebrand's disease. In addition to previously recognized patterns, a subclassification was established between plasmas that had a type Ia pattern (VIIIR:Ag multimer pattern like that of normal plasma) and those that had a type Ib pattern in which there was a relative reduction in the concentration of the larger VIIIR:Ag multimers even though all multimeric forms were present. The different patterns were consistent within families and were inherited by autosomal dominant transmission. Von Willebrand's disease heterogeneity was apparent in the distribution of these plasmas: type Ia, 43 patients in 18 families; type Ib, 39 patients in 15 families; type II, 22 patients in 10 families, one of which was further classified as type IIB, one of which was type IIC, and three were IIA. Seven patients with severe von Willebrand's disease were also studied. In general, the interpretation of SDS-agarose multimer patterns corresponded to those previously obtained by crossed immunoelectrophoresis, but the former technique was more sensitive and could identify differences that were not apparent by crossed immunoelectrophoresis.

Four kindreds with family-specific malposition of cuspids were studied. Besides malposition of cuspids, the members also showed varying combinations of other anomalies: malposition, malformation or hypodontia of upper lateral incisors, second bicuspids and lower central incisors. The pedigrees provided convincing evidence for autosomal dominant transmission of the abnormalities studied. Their nature and location allow the assumption that they represent different expressions of one dominant gene causing a primary disturbance in the critical marginal area of the embryonic dental lamina.

This report gives a description of a three-generation family in which spondylocostal dysostosis associated with previously unreported neurological complaints occurred in five family members, suggesting autosomal dominant inheritance. A review of the literature is presented and previously unreported neurological complaints, e.g. neurogenic claudicatio, are emphasized.

Trigeminal neuralgia in its classic form is usually an isolated disease that occurs in sporadic fashion, but familial cases have been described. We report the case of a 45-year-old man who presented with left V2 trigeminal neuralgia. The neurological examination was normal and imaging and laboratory investigations were non-contributive to the etiological work-up. Carbamazepine gave excellent symptomatic relief. During patient evaluation, we became aware of a clustering of trigeminal neuralgia in four other family members over three generations. Familial trigeminal neuralgia has been expounded on in fewer than 30 reports in the literature. Our cases and the literature review suggest an autosomal dominant transmission. The clinical features of familial trigeminal neuralgia are described and pathophysiological implications of this genetic clustering discussed.

Introduction: Hereditary multiple exostoses (HME) or osteochondromatosis is a rare autosomal dominant disease characterized by multiple osteochondromas and skeletal deformities. Patient Concerns & Diagnoses: We present the case of a 5 years and 9 month-old patient who presented with inferior limb pain for approximately 6 months, associating also deformity of the right index finger for a month. Hand X-ray revealed a radiologic abnormality of the right radius, therefore the child was referred to our clinic for further investigations. The X-rays revealed multiple osteochondromas of the radius, metacarpal bones, hand phalangeal bones, femur, tibia, fibula, metatarsal bones, and foot phalangeal bones. We mention that the same radiological aspect was identified in the case of the patient's mother, undiagnosed until that moment. Outcomes: The particularity of this case consists in identification of a rare genetic pathology, HME in a 5-year-old patient, without any known familial history, after the occurrence of a nontraumatic joint dislocation of the right index finger. Conclusion: HME is a rare genetic condition, without a curative treatment, burdened by multiple complications, and whose diagnosis is usually established during childhood.

We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non-polyalanine repeat mutation. This family demonstrates extreme phenotypic variability and autosomal dominant transmission over three generations not previously reported in the wider literature. Novel findings also inclue a history of recurrent second trimester miscarriage. Pediatr Pulmonol. 2014; 49:E140-E143. © 2014 Wiley Periodicals, Inc.

Purpose: A family spanning three generations with a history of familial carotid body tumors (CBTs) was studied, and previously proposed hypotheses of tumor characteristics and genetic mode of transmission were addressed. Methods: Clinically occult lesions in adult subjects were detected by means of high-resolution computed tomography. Results: A 60% incidence of bilaterality of CBTs associated with multiple paragangliomas was noted in the family studied. The genetic mode for CBTs in this family was not simple autosomal dominant transmission and appeared to be paternally directed with complete penetrance. Conclusion: In patients with familial CBTs, high-resolution computed tomography is recommended for early screening as a means of prompting diagnosis and definitive treatment, an approach that minimizes morbidity and facilitates surgical excision. (J Vasc Surg 1999;29:649-53.)

A novel phenotype in a 3-generation family with early-onset aponeurotic ptosis and corneal limbal vascularization is described. Karyotype analysis was normal in the proband, and autosomal dominant transmission is demonstrated.

Camptodactyly is a condition characterized by a nontraumatic, fixed flexion contracture at the proximal interphalangeal joint, typically involving the fifth finger. Most occurrences are sporadic, but autosomal dominant transmission and syndromic associations have been described in the literature. We describe the case of an adolescent boy who presented to our clinic with a 2-year history of bilateral, nonsyndromic camptodactyly and knuckle pads.

A mother with mild phenotype and her severely affected son, both with classic manifestations of Brachmann-de Lange syndrome (BDLS), are described. This documented mother-to-child transmission supports the hypothesis of autosomal dominant transmission with intrafamilial variability. Known cases of BDLS with autosomal dominant inheritance are reviewed. Although most cases of BDLS are sporadic, a careful evaluation of parents of affected children is important for appropriate genetic counseling.

Background: Hereditary polymorphic light eruption (HPLE) occurs uniquely in the American Indian and Inuit and exhibits autosomal dominant transmission. Because the cutaneous expression of HPLE resembles that of polymorphic light eruption (PLE) and because many non-Indians in the United States have American Indian heritage, some instances of PLE may actually be HPLE. Objective: Our purpose was to determine whether non-Indian patients with PLE have characteristics suggestive of HPLE. Methods: We surveyed in Nebraska 25 European-Caucasian and 36 African-American patients with PLE for American Indian heritage and photosensitive relatives. Nonphotosensitive subjects (52 Caucasians and 40 African Americans) were surveyed for American Indian heritage. Results: American Indian heritage occurred in 11 Caucasian patients (44%); of those, seven (64%) had photosensitive relatives. Likewise, 29 African Americans (81%) had American Indian heritage; 19 (66%) of those had photosensitive relatives. American Indian heritage occurred in 10 Caucasian control subjects (19%) and in 34 African-American control subjects (85%). Conclusion: If American Indian heritage and a family history of photosensitivity are definitive for HPLE, seven (28%) of our Caucasian patients and 19 (53%) of our African-American patients have HPLE rather than PLE. We urge physicians who suspect PLE in non-Indians to ask about American Indian heritage and photosensitive relatives and to screen their present patients with PLE for such characteristics.

Benign familial chorea (BFC) is a rare neurological disease with an autosomal dominant transmission. The disorder is characterized by its early onset in childhood, a non-progressive course of choreatic movements and the absence of intellectual impairment. There is one study describing an expanded (CAG)n repeat in the gene IT15 (Huntington) on chromosome 4p (causative for Huntington's chorea) in a family reported to have BFC that was diagnosed on the basis of onset and non-progressive course. We failed to find an expansion of the (CAG)n repeats in an Austrian family having BFC. The three affected individuals of the family had 18-25 CAG repeats. These results indicate that the diagnostic criteria for BFC should include a normal result in the analysis of the (CAG)n repeat region of the Huntington gene.

We describe a Chinese family among whom five members in three generations had a flat umbilicus with vertical and male to male transmission indicative of autosomal dominant inheritance. Except the proband, who also had Tetralogy of Fallot, other affected members had a flat umbilicus as an isolated anomaly. Autosomal dominant transmission of isolated flat umbilicus has not been reported previously.

Darier’s disease is an uncommon skin disorder with autosomal dominant transmission. During the course of the investigation of a large family in which several members are affected with schizophrenia, it was found that many family members also suffer from Darier’s disease. Recent advances in molecular genetic techniques have made the identification of such families important for an understanding of the causes of inherited diseases. The role of genetic linkage analysis of Darier’s disease is discussed following a review of the current state of knowledge of its pathogenesis and genetics.

Complex segregation analyses were performed on families ascertained through 40 unselected consecutive patients with Tourette's syndrome to examine the hypothesis that its transmission is consistent with genetic inheritance. Analyses were done using several diagnostic classifications. All results were consistent with an autosomal dominant gene with high penetrance. The penetrances ranged from 0.882 to 1.000 for males and 0.452 to 0.980 for females, depending upon the specific classification scheme incorporated into the analyses.

Brown in 1941 reported on five families having two members with Meniere's syndrome. In 1949 she reported on three siblings (children of first cousins) and two identical twins bearing the syndrome. Bernstein in 1965 reported on seven families having two or more members afflicted by the symptoms. All these reports showed association between Meniere's syndrome and migraine headaches. None provided detailed pedigree studies in order to clarify the mode of genetic transmission. We report on a father, three daughters, and one son with typical Meniere's syndrome and paroxysmal headaches. The pedigree strongly suggests autosomal dominant transmission. After studying this family we have been paying close attention to family histories of Meniere's syndrome patients. It is not at all uncommon to hear about other members of the family with the syndrome, but it is difficult to document all of the cases for logistical reasons.

A Chinese woman presented with a spontaneous pneumothorax and a family history suggestive of the autosomal dominant transmission of pneumothorax. The patient also had skin fibrofolliculomas and folliculin gene deletion, compatible with Birt-Hogg-Dube (BHD) syndrome. The importance of BHD syndrome and other familial spontaneous pneumothoraces is discussed.

We describe 2 unique kindreds with familial occurrence of esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) and reviewed the literature on familial EA+/-TEF. EA+/-TEF appears to be causally heterogeneous with evidence pointing to the existence of non-genetic developmental and multifactorial forms. The literature suggests that the parents of a single affected child should be given an empiric recurrent risk between ½ and 2%, rising to 20% if more than one sib is affected. The empiric risk of an affected child born to an affected parent is 3–4%. Empiric risk figures are useful in counseling families at the present time; however, the 2 kindreds presented here raise the possibility of autosomal dominant transmission in certain families. A third generation of affected offspring, or additional family reports should help to clarify this issue in the future.

Multiple trichoepithelioma is an uncommon skin disease with autosomal dominant transmission. It is characterized by multiple, benign facial skin lesions. These lesions constitute a formidable cosmetic and therapeutic problem. Treatment modalities are numerous and varied. In a few rare cases, confluence of the lesions may result in occlusion of the auditory canal, with consequent loss of hearing. In such cases the treatment of choice should be excision and split-thickness skin grafting.

A British pedigree multiply affected by the Gilles de la Tourette syndrome and spanning six generations is described. Of 122 members identified, 85 were individually interviewed, and 50 were diagnosed as ‘cases'. ‘Cases' consisted of 29 with definite or probable Gilles de la Tourette syndrome, 17 with definite or probable chronic multiple tics, and four with definite or probable obsessive-compulsive behaviour. Only eight of the 50 ‘cases' had consulted a doctor for their symptoms. ‘Cases' and ‘non-cases' could be distinguished on the basis of echo-phenomena, obsessive-compulsive features, self-injurious behaviour, and the trait score of the Leyton Obsessional Inventory, but did not differ significantly on any other psychopathological variables. The pattern of inheritance of the Gilles de la Tourette syndrome in this pedigree is consistent with autosomal dominant transmission.

Introduction Neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a frequent genetic disease with autosomal dominant transmission representing 95% of all phacomatosis. There have been numerous reports published about the physical aspects of neurofibromatosis, while psychological issues have been given little attention so far. Objectives The aim of our case report is to highlight the possible association of NF1 and psychotic symptoms, to underline the usefulness of a complete somatic examination when confronting with epileptic or mentally retarded teens experiencing an hallucinatory syndrome. Case report We report the case of a 17-years-old boy, with consanguineous parents and history of mental retardation and generalized epilepsy since the age of three, consulting for auditive and visual hallucinations and an heteroagressiveness since two months. Skin examination found signs of NF1. Electroencephalography (EEG) showed no epileptic abnormalities and brain MRI showed no abnormalities than could explain the psychotic symptoms that are usually parts of the organic brain syndrome. A medication by 2 mg per day of Risperidone has completely eliminate the psychotic symptoms within two months and is continued for one year at least. Conclusion Neurological and psychiatric disorders are often intricate. Psychiatrists should have a better knowledge of both psychiatric and somatic manifestations of NF1 to not pass through the right diagnosis and to ensure to these patients better intellectual, academic and social skills.

Torus palatinus (TP) represents a benign anatomic variation. It has been suggested that genetic factors play a leading role in its occurrence. The purpose of the present study was to determine, by segregation analysis, the inheritance of TP. Data were collected from members of 37 randomly selected Israel Jewish families and analyzed using the segregation analysis. Vertical transmission of TP was found in 19 families suggesting autosomal dominant transmission, which was supported by the results of the segregation analysis test. A significantly higher number of affected offspring (60.3%) was observed compared to the expected figure (50%) for an autosomal dominant trait with full penetrance. This is explained by the high gene frequency of TP and the relatively high proportion of homozygous parents.

Supernumerary teeth are common in the general population and occur more frequently in-patients with family history of such teeth. Multiple supernumerary teeth are associated with cleidocranial dyplasia and Gardner syndrome. However it is rare to find multiple supernumeraries in individuals with no other associated disease or syndrome. We describe the occurrence of multiple supernumerary teeth in a family occurring as a non-syndromal trait. The autosomal dominant transmission of non-syndromal multiple supernumerary teeth is new.

Pachydermoperiostosis (idiopathic or primary hypertrophic osteoarthropathy) is a rare condition of unknown origin involving the skin and the skeleton, with an autosomal dominant transmission. We report a case of anaemia in a patient with pachydermoperiostosis indicating myelofibrosis, and review the literature and the pathogenetic mechanisms.

The paroxysmal facial pain of trigeminal neuralgia is usually idiopathic, but familial cases have been described. We describe a family with apparent autosomal dominant transmission of trigeminal neuralgia. Our cases and a review of the literature suggest that the etiology of trigeminal neuralgia may be vascular compression of the fifth cranial nerve. Autosomal dominant vascular and epileptic disorders are reviewed, and possible relationships to familial trigeminal neuralgia are considered.

Previous genetic studies of patients with thoracic aortic aneurysms have identified mutations in several genes involvedin some way with transforming growth factor (TGF)-β signaling: FBN1 (encoding fibrillin-1, causing Marfan syndrome), TGFBR1 and TGFBR2 (encoding transforming growth factor-β receptors I and II, causing Loeys-Dietz syndrome), and SMAD3 (encoding Mothers against decapentaplegic homolog 3, causing aneurysms-osteoarthritis syndrome). Two groups (Boileau et al, Lindsay et al) sought to identify additional genes responsible for familial thoracic aortic aneurysms. They also sought to explain an apparent paradox: mutations in the aforementioned genes that would be predicted to result in reduced activity of the TGF-β pathwayappear to cause vasculopathy via increased TGF-β signaling. Both groups started by identifying families with autosomal dominant transmission of thoracic aortic aneurysms and in whom mutations in FBN1 , TGFBR1 , TGFBR2 , and SMAD3 had been ruled out. Each used modern genetic techniques to identify the presumptive causal gene mutations responsible …

Writ e Click is restricted to comments about studies published in Neurology ® within the past 8 weeks. The submission below represents an exception because it addresses a genetic sequencing error published in Neurology in 2003. In addition, these Writ e Click submissions will be available as open access to all readers in an effort to further publicize the Correction. In 2003, Saiki et al.1 reported an autosomal dominant transmission of chorea-acanthocytosis (ChAc) that constituted a significant challenge to the generally …

Congenital hypoplastic anemia (CHA) or Blackfan-Diamond anemia (BDA) is a rare congenital abnormality of erythropoiesis characterized by normochromic, macrocytic anemia presenting in infancy or early childhood. Associated phenotypic abnormalities such as triphalangeal thumbs and cleft lip and/or palate are found in 70% of cases. Although most cases are sporadic, several reports suggest either autosomal dominant or autosomal recessive inheritance. We report on a 3 generation family with autosomal dominant inheritance of CHA. © 1994 Wiley-Liss, Inc.

We report a family with nine subjects over three generations affected with an omphalocele requiring surgical intervention within the first few days of life. Because of the vertical transmission and male to male inheritance in our family, we conclude that an autosomal dominant gene caused the omphalocele in the affected family members. The paternal great grandfather of the proband was not clinically affected but produced two children with omphaloceles with different spouses.