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X-linked intellectual disability accounts for 10–12% of cases of cognitive impairment in males. Mutations in IL1RAPL1 are an emerging form of apparently non-syndromic X-linked intellectual disability. We report a 8-year-old intellectually disabled boy with speech delay, and unusual facial and digital anomalies who showed a novel and complex IL1RAPL1 rearrangement. It was defined by two intragenic non-contiguous duplications inherited from the unaffected mother. Chromosome X inactivation study on the mother's blood leukocytes, urinary sediment and buccal swab did not show a significant skewed inactivation. Comparison with previously described patients with IL1RAPL1 disruption was carried. Although data on craniofacial features were scanty in many papers, subtle facial dysmorphism with a thin upper lip seemed a quietly represented picture without any other genotype–phenotype correlations. Our study expands the molecular repertoire of IL1RAPL1 mutations in intellectual disability and points out the need of more accurate clinical descriptions to better define the related phenotype. [ABSTRACT FROM AUTHOR]

Abstract: Strømme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly and developmental delay. To date, this condition was described in a couple of sibs and 7 additional sporadic patients. We report on a 11-month-old female, who requested surgical correction for jejunal atresia shortly after birth and also presented with megalocornea and persistence of the pupillary membrane. Microcephaly and developmental delay were absent at last examination. An oligonucleotide CGH-array analysis excluded cryptic chromosome rearrangement(s). Comparison of the previously published and present patients added some details on the natural history of Strømme syndrome. Delivery is usually performed preterm possibly due to polyhydramnios. Birth parameters, especially head circumference, are commonly at the lower end of the normal range. Microcephaly is more frequently but not constantly observed in older individuals, thus suggesting a progressive course, and may relate to an underlying neuronal migration defect. Jejunal atresia has an apple peel appearance in most but not all patients and its post-surgical course is usually uneventful. The ocular phenotype comprises a wide range of anterior chamber anomalies with sclerocornea/corneal leukoma being the most common. [Copyright &y& Elsevier]

Abstract: Anophthalmia/microphthalmia is a rare developmental craniofacial defect, which recognizes a wide range of causes, including chromosomal abnormalities, single-gene mutations as well as environmental factors. Heterozygous mutations in the SOX2 gene are the most common monogenic form of anophthalmia/microphthalmia, as they are reported in up to 10–15% cases. Here, we describe a sporadic patient showing bilateral anophthalmia/microphthalmia and micropenis caused by a novel mutation (c.59_60insGG) in the SOX2 gene. Morphological and endocrinological evaluations excluded any anomaly of the hypothalamus-pituitary axis. Our finding supports the hypothesis that SOX2 is particularly prone to slipped-strand mispairing, which results in a high frequency of point deletions/insertions. [Copyright &y& Elsevier]