Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature

Ting, Chun Yi; Bhatia, Neha; Lim, Jiin Ying; Goh, Chew-Yin Jasmine; Vasanwala, Rashida Farhad; Ong, Caroline C. P.; Seow, Wan Tew; Yeow, Vincent; Ting, Teck Wah; Ng, Ivy; Jamuar, Saumya Shekhar

doi:10.1016/j.ejmg.2019.04.009

Cited by 13 publications

(23 citation statements)

References 22 publications

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“…Congenital cardiac anomalies are also reported in approximately 7–10% of MGS patients; fetal echocardiography can be an approach to apply. But other clinical manifestations such as skeletal anomalies (absent patellae, scoliosis, and syndactyly), genital anomalies (cryptorchidism, micro-penis, hypoplasia of the corpora cavernosa hypospadias), respiratory malformation (pulmonary emphysema, laryngomalacia, tracheomalacia, and bronchomalacia) [ 1 , 4 , 7 , 10 , 14 , 15 ] were hard to detect in prenatal ultrasound screening. In our case, we identified brachydactyly of the right thumb as evidence of skeletal anomaly prenatally, yet microtia and genital abnormalities were found postpartum.…”

Section: Discussionmentioning

confidence: 99%

“…Progressive fetal growth retardation could be described by the growth curve. The Standard curve was plotted based on data of ethnic Chinese population [ 4 , 5 ] …”

Section: Case Reportmentioning

confidence: 99%

“…MGS is often characterized by specific facial features [ 1 , 3 ]. Eight types of MGS were classified according to the slightly different phenotypes [ 4 ]. It is reported recently that allelic mutations in the CDC45 cause MGS7 [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation

Zhang

et al. 2021

BMC Pregnancy Childbirth

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Background Meier-Gorlin syndrome 7 (MGS7) is a rare autosomal recessive condition. We reported a fetus diagnosed with Meier-Gorlin syndrome 7. The antenatal sonographic images were presented, and compound heterozygous mutations of CDC45 on chromosome 22 were identified by whole-exome sequencing (WES). Case presentation Fetal growth restriction (FGR), craniosynostosis, and brachydactyly of right thumb were found in a fetus of 28th gestational weeks. The fetus was diagnosed as MGS7 clinically. After extensive counseling, the couple opted for prenatal diagnosis by cordocentesis and termination of pregnancy. Karyotype analysis and WES were performed. Chromosomal karyotyping showed that the fetus was 46, XY. There were 2 mutations of CDC45, the causal gene of MGS7 on chromosome 22, which were inherited from the couple respectively were identified by WES. Facial dysmorphism, brachydactyly of right thumb, and genitalia abnormally were proved by postpartum autopsy, and craniosynostosis was confirmed by three-dimensional computed tomography (3D-CT) reconstruction. Conclusions It is possible to detect multiple clinical features of Meier-Gorlin syndrome in prenatal sonography. Deteriorative FGR complicated with craniosynostosis indicates MGS7. Combination of 2D and 3D ultrasonography helps to detect craniosynostosis. The affected fetus was confirmed a compound heterozygote of CDC45 related MGS by whole-exome sequencing, which is critical in identifying rare genetic diseases.

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Section: Discussionmentioning

confidence: 99%

“…Progressive fetal growth retardation could be described by the growth curve. The Standard curve was plotted based on data of ethnic Chinese population [ 4 , 5 ] …”

Section: Case Reportmentioning

confidence: 99%

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Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation

Zhang

et al. 2021

BMC Pregnancy Childbirth

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“…1,2 Intelligence is usually preserved, but motor and/or language development is delayed. 1,[3][4][5][6] Meier-Gorlin syndrome is a genetically heterogeneous disease. There are 12 known genes (ORC1, ORC4, ORC6, CDT1, CDC6, GMNN, CDC45L, MCM3, MCM5, MCM7, GINS2, and DONSON) that are responsible for the development of the disease.…”

Section: Introductionmentioning

confidence: 99%

“…There are 12 known genes (ORC1, ORC4, ORC6, CDT1, CDC6, GMNN, CDC45L, MCM3, MCM5, MCM7, GINS2, and DONSON) that are responsible for the development of the disease. 5,[7][8][9] (Supplementary Table 1)MGS can be inherited in either a dominant or recessive manner. The causative genes encode proteins involved in regulation of DNA replication during the cell cycle.…”

Section: Introductionmentioning

confidence: 99%

Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome

Забненкова¹,

Щагина²,

Makienko³

et al. 2022

TACG

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Background: Meier-Gorlin syndrome (MGS) is a rare genetic syndrome inherited in an autosomal dominant or autosomal recessive manner. The disorder is characterized by bilateral microtia, absence or hypoplasia of the patella, and an intrauterine growth retardation as well as a number of other characteristic features. The cause of the disease is mutations in genes encoding proteins involved in the regulation of the cell cycle (ORC1,

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