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Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty

Mingyu Han1,2, Wei Shi2,3, Xiangxiang Chen1,2

  • 1Department of Neonatology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Molecular Genetics & Genomic Medicine
|August 28, 2024
PubMed

Insights

Feeding difficulties in infants can signal rare genetic diseases. Whole-exome sequencing (WES) helps identify genetic causes, improving diagnosis for these complex cases.

Area of Science:

  • Pediatric Genetics
  • Neonatology
  • Rare Diseases

Background:

  • Feeding difficulties are common in infants with rare genetic disorders.
  • These challenges often present as part of multisystemic conditions.

Purpose of the Study:

  • To characterize genetic findings in infants with feeding difficulties.
  • To explore the phenotype spectrum associated with these genetic conditions.

Main Methods:

  • A case series of infants under six months with feeding difficulties was analyzed.
  • Whole-exome sequencing (WES) was performed on all participants.
  • Clinical phenotypes and genetic results were correlated.

Main Results:

  • 22 out of 28 infants (78.3%) had disease-related genetic variations identified by WES.
  • 15 infants (53.6%) received definitive genetic diagnoses.
  • Abnormal muscle tone and neurological issues were prevalent; 96.2% had cranial MRI abnormalities.

Conclusions:

  • Feeding difficulty can be a key indicator of rare genetic diseases.
  • WES significantly improves diagnostic accuracy for infants presenting with feeding issues.
Abstract

Keywords:
clinical manifestationsfeeding difficultymultiple malformationrare genetic diseasewhole‐exome sequencing (WES)

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