PMID- 36856321
OWN - NLM
STAT- MEDLINE
DCOM- 20230522
LR  - 20230612
IS  - 1744-5094 (Electronic)
IS  - 1381-6810 (Linking)
VI  - 44
IP  - 3
DP  - 2023 Jun
TI  - Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the 
      clinical spectrum.
PG  - 226-233
LID - 10.1080/13816810.2023.2183223 [doi]
AB  - BACKGROUND: Harel-Yoon syndrome (HAYOS) is a recently described 
      neurodevelopmental disorder characterized by psychomotor delay, truncal 
      hypotonia, appendicular spasticity, and peripheral neuropathy. It is caused by 
      mutations in ATAD3A gene located on chromosome 1p.36.33 whose functions include 
      mitochondrial DNA stabilization, the regulation of mitochondrial fission/fusion, 
      and cholesterol homeostasis. MATERIALS AND METHODS: An 11-year-old male patient 
      of consanguineous Egyptian parents, who present with neuroregression and ptosis 
      along with progressive impaired vision, undergoes complete ophthalmological and 
      neurological examination. Additionally, color fundus photography, fundus 
      autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) of 
      both the macula and optic nerve head, full field electroretinogram (ERG), and 
      visual field perimetry were obtained. Whole-exome sequencing and mitochondrial 
      genome sequencing were done in a commercial laboratory from a peripheral blood 
      sample. RESULTS: A novel mutation in ATAD3A gene c.624_644del was identified by 
      whole-exome sequencing consistent with a diagnosis of Harel-Yoon Syndrome 
      (HAYOS). The 11-year-old boy had characteristic features of neurodevelopmental 
      delay, hypotonia, and peripheral neuropathy. However, we documented some novel 
      features as fatiguable ptosis, facial weakness, progressive bulbar palsy, 
      obsessive-compulsive disorder (OCD) in addition to cone system dysfunction. 
      CONCLUSION: Our study reports a novel mutation in ATAD3A gene and expands the 
      clinical spectrum of Harel-Yoon Syndrome. Future research aiming at better 
      understanding of gene function will lead to better genotype-phenotype correlation 
      and could pave the way to more treatment options.
FAU - Tawfik, Caroline Atef
AU  - Tawfik CA
AUID- ORCID: 0000-0001-5856-2135
AD  - Department of ophthalmology, Ain Shams University, Cairo, Egypt.
AD  - Watany Eye Hospital, Cairo, Egypt.
FAU - Zaitoun, Raghda
AU  - Zaitoun R
AD  - Watany Eye Hospital, Cairo, Egypt.
FAU - Farag, Aliaa Ahmed
AU  - Farag AA
AD  - Department of Ophthalmology, Cairo University, Cairo, Egypt.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20230301
PL  - England
TA  - Ophthalmic Genet
JT  - Ophthalmic genetics
JID - 9436057
RN  - 0 (ATAD3A protein, human)
RN  - EC 3.6.4.- (ATPases Associated with Diverse Cellular Activities)
RN  - 0 (Membrane Proteins)
RN  - 0 (Mitochondrial Proteins)
SB  - IM
MH  - Male
MH  - Humans
MH  - *Muscle Hypotonia
MH  - Mutation
MH  - Mitochondria/genetics
MH  - Electroretinography
MH  - Fundus Oculi
MH  - Phenotype
MH  - *Nervous System Malformations
MH  - Tomography, Optical Coherence
MH  - ATPases Associated with Diverse Cellular Activities/genetics
MH  - Membrane Proteins/genetics
MH  - Mitochondrial Proteins/genetics
OTO - NOTNLM
OT  - ATAD3A
OT  - Harel-Yoon syndrome
OT  - mitochondria
OT  - novel mutation
OT  - whole exome sequencing
EDAT- 2023/03/02 06:00
MHDA- 2023/05/22 06:42
CRDT- 2023/03/01 08:33
PHST- 2023/05/22 06:42 [medline]
PHST- 2023/03/02 06:00 [pubmed]
PHST- 2023/03/01 08:33 [entrez]
AID - 10.1080/13816810.2023.2183223 [doi]
PST - ppublish
SO  - Ophthalmic Genet. 2023 Jun;44(3):226-233. doi: 10.1080/13816810.2023.2183223. 
      Epub 2023 Mar 1.