Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

ABSTRACT:

Background

Congenital central hypoventilation syndrome (CCHS), which is caused by PHOX2B with phenotypic variations, has a point of controversy: CCHS is putatively involved in autopsy cases of sudden unexpected infant death (SUID) including sudden infant death syndrome.

Objective

The relation of CCHS to SUID cases was investigated by extensive genotyping of PHOX2B.

Methods

We analyzed 93 DNA samples of less than one-year-old SUID cases that were autopsied in our department. Unrelated adult volunteers (n = 942) were used as the control.

Results

No polyalanine tract expansion was detected in the SUID cases. The allelic frequencies of repeat contractions and SNP (rs28647582) in intron 2 were not significantly different from that in those control group. Further ext

SUBMITTER: Ueda A 

PROVIDER: S-EPMC9053812 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature