title: Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A.
abstract: We report on a case of apparent germline mosaicism in a family of two sisters carrying a novel 19p13.13 deletion. The 11-year-old proposita was referred for evaluation of macrocephaly, moderate intellectual disability (ID), and episodic ataxia. Array comparative genomic hybridization (CGH) detected a 399 kb microdeletion with breakpoints within genes NFIX and CACNA1A. A similar deletion was also seen in the elder sibling who presented with macrocephaly, ID, and strabismus. The deletions were confirmed to be de novo after the parental aCGH analysis suggesting that this is an example of germinal mosaicism. This study contributes additional information for the newly identified 19p13 deletion syndrome and clarifies the clinical roles of genes in the involved region. This case of apparent germline mosaicism represents the only known family in the cohort of 1,800 patients analyzed by our group.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.
authors.forename: Manjunath
authors.initials: M
authors.lastname: Nimmakayalu
authors.forename: V Kim
authors.initials: VK
authors.lastname: Horton
authors.forename: Ben
authors.initials: B
authors.lastname: Darbro
authors.forename: Shivanand R
authors.initials: SR
authors.lastname: Patil
authors.forename: Hamza
authors.initials: H
authors.lastname: Alsayouf
authors.forename: Kim
authors.initials: K
authors.lastname: Keppler-Noreuil
authors.forename: Oleg A
authors.initials: OA
authors.lastname: Shchelochkov
mesh_terms: D000293:Adolescent; D015220:Calcium Channels / Q000235:genetics*; D025063:Chromosome Disorders / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D009030:Mosaicism; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type