title: Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.
abstract: Heterozygous in frame trinucleotide duplications within the PHOX2B gene, leading to poly-alanine expansions, cause Congenital Central Hypoventilation Syndrome. Here we report about a CCHS patient, carrying a +13Ala PHOX2B expansion, whose asymptomatic mother resulted with a low level of mosaicism for the same mutation in peripheral blood cells. Her second pregnancy ended with the spontaneous miscarriage of a fetus who had inherited the PHOX2B mutation, thus confirming germline mosaicism in the mother and the need of proper genetic counseling to CCHS families.
authors: U.O.C. Medical Genetics, Institute Giannina Gaslini, Genova, Italy.
authors: Tiziana
authors: T
authors: Bachetti
authors: Marco
authors: M
authors: Di Duca
authors: Matteo
authors: M
authors: Della Monica
authors: Lidia
authors: L
authors: Grappone
authors: Gioacchino
authors: G
authors: Scarano
authors: Isabella
authors: I
authors: Ceccherini
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000409:Alanine; D019075:Electrophoresis, Capillary; D005260:Female; D005817:Genetic Counseling; D018095:Germ-Line Mutation / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D020182:Sleep Apnea, Central / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors; D000409:Alanine
keywords: PHOX2B polyalanine expansion; capillary electrophoresis of fluorescent amplimers; congenital central hypoventilation syndrome (CCHS); disease recurrence; genetic counseling; somatic mosaicism