title: Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.
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.
authors: Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
authors: Emma M
authors: EM
authors: Jenkinson
authors: Helen
authors: H
authors: Kingston
authors: Jill
authors: J
authors: Urquhart
authors: Naz
authors: N
authors: Khan
authors: Athalie
authors: A
authors: Melville
authors: Martin
authors: M
authors: Swinton
authors: Yanick J
authors: YJ
authors: Crow
authors: Julian R E
authors: JR
authors: Davis
authors: Dorothy
authors: D
authors: Trump
authors: William G
authors: WG
authors: Newman
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome; D055815:Young Adult