Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency

Tran, Van Khanh; Diep, Quang Minh; Qiu, Zilong; Le, Thi Phuong; Duy, Long; Bui, The‐Hung; Ta, Thanh Van; Tran, Thinh Huy

doi:10.1016/j.tjog.2021.11.027

Cited by 2 publications

(4 citation statements)

References 12 publications

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“…15 Additionally, the whole genome sequence and precise medicine have appealed to the general population. 16 All suggest that the estimated or accumulated risk www.ejcma.org Liu et al…”

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confidence: 99%

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Organ- or function-preservation surgery is recommended, but who is a candidate?

Liu

Yang

Wang

2022

Journal of the Chinese Medical Association

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“…15 Additionally, the whole genome sequence and precise medicine have appealed to the general population. 16 All suggest that the estimated or accumulated risk www.ejcma.org Liu et al…”

mentioning

confidence: 99%

“…15 Additionally, the whole genome sequence and precise medicine have appealed to the general population. 16 All suggest that the estimated or accumulated risk of certain diseases or the general population should always be balanced between the risks and benefits of organ- or function-preservation treatment.…”

mentioning

confidence: 99%

Organ- or function-preservation surgery is recommended, but who is a candidate?

Liu

Yang

Wang

2022

Journal of the Chinese Medical Association

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“…However, as far as we know, in all of them there have been a definite or probable clinical diagnosis. In the current study, no preliminary clinical diagnosis or assumption were given to deceased patients, and from this point of view it could be assumed as the first report of its kind [ 20 , 21 , 22 ].…”

Section: Discussionmentioning

confidence: 99%

“…Second, genotype–phenotype correlation is not straightforward and there is always concern around other possibilities which may be missed. This makes genetic counseling complicated, and any clinical intervention based on these findings must be advised more cautiously [ 22 , 30 ]…”

Section: Discussionmentioning

confidence: 99%

Use of expanded carrier screening for retrospective diagnosis of two deceased siblings with Van Maldergem syndrome 2: case report

Rahmani,

Ahmadvand,

Khakpour

2022

Asian Biomedicine

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Van Maldergem syndrome (VMLDS) is a recessive disease which affects multiple organs including the face, ear, and limb extremities. It can be caused by pathogenic variants in either the gene DCHS1 or FAT4. Diagnosis of VMLDS is complicated, especially regarding its similarity of symptoms to Hennekam syndrome, another disorder caused by FAT4 variants. Reported patients are two infantile siblings with multiple congenital anomalies, who deceased without clinical diagnosis. Whole exome sequencing was exploited for expanded carrier screening (ECS) of their parents, which revealed a novel splicing variant in the gene FAT4, NM_024582.6: c.7018+1G>A. In silico analysis of the variant indicates loss of canonical donor splice site of intron 6. This variant is classified as pathogenic based on ACMG criteria. Reverse phenotyping of patients resulted in likely diagnosis of VMLDS2. This study reaffirms the possibility of using ECS, leading to the genetic diagnosis of a rare disease with complicated clinical features.

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Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency

Cited by 2 publications

References 12 publications

Organ- or function-preservation surgery is recommended, but who is a candidate?

Organ- or function-preservation surgery is recommended, but who is a candidate?

Use of expanded carrier screening for retrospective diagnosis of two deceased siblings with Van Maldergem syndrome 2: case report

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