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: Tiziana Bachetti, Marco Di Duca, Matteo Della Monica, Lidia Grappone, Gioacchino Scarano, Isabella Ceccherini
• Journal: Pediatric pulmonology (Pediatr Pulmonol) Vol. 49 Issue 3 Pg. E45-7 (Mar 2014) ISSN: 1099-0496 [Electronic] United States
• PMID: 23460545 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2013 Wiley Periodicals, Inc.

Chemical References

• Homeodomain Proteins
• NBPhox protein
• Transcription Factors
• Alanine

Topics

• Abortion, Spontaneous (genetics)
• Alanine
• Electrophoresis, Capillary
• Female
• Genetic Counseling
• Germ-Line Mutation (genetics)
• Homeodomain Proteins (genetics)
• Humans
• Hypoventilation (congenital, genetics)
• Infant, Newborn
• Male
• Mosaicism
• Pregnancy
• Sleep Apnea, Central (genetics)
• Transcription Factors (genetics)
• Trinucleotide Repeat Expansion (genetics)