Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum

George, Alice M.; Love, Donald R.; Hayes, Ian; Tsang, Bobby

doi:10.1159/000335344

Cited by 27 publications

(40 citation statements)

References 54 publications

(32 reference statements)

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“…Pathogenic variants and deletions in HNF1B (also referred to as TCF2 ) have been found in patients with renal cysts and diabetes syndrome . Deletion of LHX1 is associated with additional features including cognitive impairment, seizures, and structural brain abnormalities . The deletion was considered to have clinical significance.…”

Section: Resultsmentioning

confidence: 99%

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Fetal phenotypes emerge as genetic technologies become robust

et al. 2019

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Prenatal genomic evaluation of the fetus is available at decreasing cost and with a faster turnaround time. However, fetal genotype‐phenotype correlations are in their infancy. By comparison, pediatric and adult genotype‐phenotype databases are well established and publicly accessible. A similar system for fetal genomics is lacking. When a fetal anomaly is identified by ultrasound imaging, a genetic diagnosis provides important information. However, fetal prognostic counseling is problematic if the only available information is based on outcomes following postnatal diagnoses. The same conditions identified prenatally may have more benign or more deleterious outcomes. Also, the condition may evolve over the pregnancy itself. As genomic testing increasingly examines fetal DNA at a single nucleotide level, the concomitant in utero phenotype deserves equal attention. Often, the reports of fetal phenotype are limited. Among sonologists, an increased awareness of attaining and communicating detailed fetal phenotypes is needed. The interpretation of expanded prenatal sequencing is reliant on deeper fetal phenotyping. The information gained significantly impacts clinical care and understanding of fetal development. This case series highlights: the broad spectrum of fetal phenotypes for known genetic conditions, phenotype progression during pregnancy, and the need to supplement systematic imaging with descriptive details when assessing fetuses with malformations.

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Section: Resultsmentioning

confidence: 99%

“…[7][8][9] Deletion of LHX1 is associated with additional features including cognitive impairment, seizures, and structural brain abnormalities. 10 The deletion was considered to have clinical significance. Parental CMAs were normal.…”

Section: Casementioning

confidence: 99%

Fetal phenotypes emerge as genetic technologies become robust

et al. 2019

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“…Rivera et al 15 Palumbo et al 16 Chen et al 13 Dixit et al 6 Hinckes et al 17 George et al 18 Hendrix et al 11 Loirat et al 8 Nagamani et al 19 Bernadini et al 9 Mefford et al 5…”

Section: Quintero-mentioning

confidence: 99%

Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature

et al. 2015

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“…Nevertheless, no other illnesses or health problems were found. To elucidate the various clinical presentations and characteristics of Chr17 deletion, we compared the clinical manifestations in our proband and previously reported patients with a similar deletion region (34,437.475-36,424,950) in Chr17q12 [7][8][9][10][11][12][13][14][15] (Fig. 2, Table 1).…”

Section: Case Presentationmentioning

confidence: 99%

“…As shown in Table 1, individuals with similar gene deletions could manifest various presentations and disorders (such as diabetes, renal cysts, liver and pancreas malformations, and intellectual disability). Even between parents and children without differences in the deletion region, the significant variance in clinical phenotypes is presented [7,11,13]. Likewise, the severity of renal and pancreatic defects varied between monozygotic twins with MODY5 due to Chr17q12 deletion [8].…”

Section: Case Presentationmentioning

confidence: 99%

A rare combination of MODY5 and duodenal atresia in a patient: a case report

Zeng

Wen

et al. 2020

BMC Med Genet

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Background: Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous group of hereditary diabetes, generally caused by one abnormal gene. MODY5 is caused by mutations of the hepatocyte nuclear factor 1 homeobox β gene (HNF1β), always as a part of Chr17q12 deletion, whereas heterozygous mutation in B lymphocyte kinase (BLK) gene is responsible for MODY11. Case presentation: We report a patient who developed diabetes with a 1.58-Mb Chr17q12 microdeletion and BLK gene c.211G > A mutation using the cytoscan high-density array and whole-exome sequencing analysis. The patient received the surgery at five days after birth for the duodenal atresia and had normal growth postoperatively. Mild elevated liver enzymes were found along with the normal renal function. Quantitative analysis of β-cell function markers, including fasting insulin (< 0.2 mIU/L), fasting C-peptide (0.02 μg/L), postprandial-2 h insulin (< 0.2 mIU/L), and postprandial-2 h C-peptide (0.03 μg/L) suggested a severe loss of insulin secreting capacity. Meanwhile, islet autoantibodies (GADA, IA-2, ICA, and IAA) in the patient's blood appeared negative. Neither dysplasia in other tissues nor abnormality in development and behavior was found. Conclusion: To date, gastrointestinal malformations were extremely rarely reported in patients with MODY. Our clinical report further expands the clinical presentation and variability of MODY5.

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Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum

Cited by 27 publications

References 54 publications

Fetal phenotypes emerge as genetic technologies become robust

Fetal phenotypes emerge as genetic technologies become robust

Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature

A rare combination of MODY5 and duodenal atresia in a patient: a case report

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