Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.

Emma M Jenkinson, Helen Kingston, Jill Urquhart, Naz Khan, Athalie Melville, Martin Swinton, Yanick J Crow, Julian R E Davis, Dorothy Trump, William G Newman

    Research output: Contribution to journalArticlepeer-review

    Abstract

    We present a newly recognized, likely autosomal recessive, pleiotropic disorder seen in four individuals (three siblings and their nephew) from a consanguineous family of Pakistani origin. The condition is characterized by hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, moderate learning disability, and distinctive facial dysmorphic features. Autozygosity mapping using SNP array genotyping defined a single, large autozygous region of 13.1 Mb on chromosome 3p21 common to the affected individuals. The critical region contains 227 genes and initial sequence analysis of a functional candidate gene has not identified causative mutations.
    Original languageEnglish
    Pages (from-to)2910-2915
    Number of pages5
    JournalAmerican Journal of Medical Genetics. Part A
    Volume155A
    Issue number12
    DOIs
    Publication statusPublished - Dec 2011

    Keywords

    • Hypogonadotropic hypogonadism
    • Microcephaly
    • Sensorineural hearing loss

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