2.Clinical phenotype and genetic analysis of a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation.
Zhongwei XU ; Zhe SU ; Rongfei ZHENG ; Liping HOU ; Longjiang ZHANG
Chinese Journal of Medical Genetics 2022;39(12):1360-1365
OBJECTIVE:
To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation (FPHH).
METHODS:
Clinical data and family history for a child with FPHH were collected. Peripheral blood samples were collected from the child, his parents and two sisters. Following the extraction of DNA, high-throughput sequencing was carried out to screen for genetic variant associated with the disease. Candidate variant was verified by Sanger sequencing of his family members.
RESULTS:
The main clinical features of the proband have included progressive hyperpigmentation and hypopigmentation. High-throughput sequencing revealed that he has harbored a heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene, which was unreported previously. Sanger sequencing confirmed that the variant has co-segregated with the disease phenotype in his pedigree.
CONCLUSION
For infants with progressive skin pigmentation and hypopigmentation spots, FPHH should be suspected. The heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene probably underlay the FPHH in this pedigree.
Male
;
Humans
;
Pedigree
;
Hypopigmentation/genetics*
;
Phenotype
;
Hyperpigmentation/genetics*
;
China
3.Analysis of a case with Mowat-Wilson syndrome due to nonsense variant of ZEB2 gene.
Mingcong SHE ; Zhenhua ZHAO ; Panlai SHI ; Shanshan GAO ; Xiangdong KONG
Chinese Journal of Medical Genetics 2022;39(8):889-892
OBJECTIVE:
To explore the genetic basis for a girl with distinctive facial features, epilepsy, intellectual disability, chronic constipation and hypopigmentation of neck and upper extremities.
METHODS:
Whole exome sequencing was carried out for the proband. Candidate variant was verified by Sanger sequencing.
RESULTS:
The proband was found to harbor a heterozygous nonsense c.586G>T (p.Glu196*) variant of the ZEB2 gene, which was unreported previously. The variant was not detected in either parent.
CONCLUSION
The ZEB2 gene c.586G>T (p.Glu196*) variant probably underlay the Mowat-Wilson syndrome in this patient. Hypopigmentation in the neck and upper extremities may be related to Mowat-Wilson syndrome. Prenatal diagnosis was recommended for subsequent pregnancies.
Facies
;
Female
;
Hirschsprung Disease
;
Humans
;
Hypopigmentation
;
Intellectual Disability/genetics*
;
Microcephaly
;
Pregnancy
;
Zinc Finger E-box Binding Homeobox 2/genetics*
Result Analysis
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