title: Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
abstract: We describe two brothers from a consanguineous family of Egyptian ancestry, presenting with microcephaly, apparent global developmental delay, seizures, spasticity, congenital blindness, and multiple cutaneous capillary malformations. Through exome sequencing, we uncovered a homozygous missense variant in STAMBP (p.K303R) in the two siblings, inherited from heterozygous carrier parents. Mutations in STAMBP are known to cause microcephaly-capillary malformation syndrome (MIC-CAP) and the phenotype in this family is consistent with this diagnosis. We compared the findings in the present brothers with those of earlier reported patients. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: Muhammad Imran
authors.initials: MI
authors.lastname: Naseer
authors.affiliation: Department of Medical Genetics, King Fahad General Hospital, Jeddah, Saudi Arabia.
authors.forename: Sameera
authors.initials: S
authors.lastname: Sogaty
authors.affiliation: Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: Mahmood
authors.initials: M
authors.lastname: Rasool
authors.affiliation: Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: Adeel G
authors.initials: AG
authors.lastname: Chaudhary
authors.affiliation: Maternity and Children Hospital, Jeddah, Saudi Arabia.
authors.forename: Yousif Ahmed
authors.initials: YA
authors.lastname: Abutalib
authors.affiliation: The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Susan
authors.initials: S
authors.lastname: Walker
authors.affiliation: The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Christian R
authors.initials: CR
authors.lastname: Marshall
authors.affiliation: The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Daniele
authors.initials: D
authors.lastname: Merico
authors.affiliation: Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
authors.forename: Melissa T
authors.initials: MT
authors.lastname: Carter
authors.affiliation: Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia. stephen.scherer@sickkids.ca.|The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada. stephen.scherer@sickkids.ca.|McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. stephen.scherer@sickkids.ca.
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.affiliation: Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: Mohammad H
authors.initials: MH
authors.lastname: Al-Qahtani
authors.affiliation: The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Mehdi
authors.initials: M
authors.lastname: Zarrei
mesh_terms: D001921:Brain / Q000473:pathology; D002196:Capillaries / Q000002:abnormalities*; D003241:Consanguinity; D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis; D056827:Endosomal Sorting Complexes Required for Transport / Q000235:genetics*; D059472:Exome; D019066:Facies; D056726:Genetic Association Studies; D059014:High-Throughput Nucleotide Sequencing; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D035781:Siblings; D013577:Syndrome; D043222:Ubiquitin Thiolesterase / Q000235:genetics*; D054079:Vascular Malformations / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D056827:Endosomal Sorting Complexes Required for Transport; C486696:STAMBP protein, human; D043222:Ubiquitin Thiolesterase
keywords: MIC-CAP; STAMBP; exome sequencing; microcephaly-capillary malformation syndrome