Cornelia de lange syndrome with thyroid agenesis of an indonesian patient

A. M. Maskoen; B. Laksono; R. Hajjah; A. Zada; L. P. Suciati; P. N. Fauziah; H. M. Nataprawira

doi:10.14715/cmb/2017.63.8.19

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Vol. 63 No. 8: Issue 8

Issue Published : September 4, 2017

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Cornelia de lange syndrome with thyroid agenesis of an indonesian patient

https://doi.org/10.14715/cmb/2017.63.8.19

A. M. Maskoen

Department of Oral Biology, Faculty of Dentistry, Universitas Padjadjaran, Bandung, Indonesia

B. Laksono

Department of Oral Biology, Faculty of Dentistry, Universitas Padjadjaran, Bandung, Indonesia

R. Hajjah

Department of Child Health, Faculty of Medicine, Universitas Padjadjaran /Hasan Sadikin General Hospital, Bandung, Indonesia

A. Zada

Department of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia

L. P. Suciati

Molecular Genetic Laboratory, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia

P. N. Fauziah

Molecular Genetic Laboratory, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia

H. M. Nataprawira

Department of Child Health, Faculty of Medicine, Universitas Padjadjaran /Hasan Sadikin General Hospital, Bandung, Indonesia

Corresponding Author(s) : A. M. Maskoen

amelani@yahoo.com

Cellular and Molecular Biology, Vol. 63 No. 8: Issue 8
Article Published : August 30, 2017

Abstract

Cornelia de Lange syndrome (CdLs), which is also called Brachmann de Lange syndrome, is a congenital disorder characterized by distinctive facial features, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations that mainly involve the upper extremities. The prevalence ranges from 1:100,000 to as high as 1:10,000. Most cases (50-60%) were carried mutation in NIPBL gene. To our knowledge this is the first CdLs Indonesian case that reported with molecular analysis study. We present an 11 months old female Indonesian patient with classic CdLs with congenital hypothyroid. Genetics studies were performed in intron 1, exon 2, exon 10 and exon 22 of NIPBL gene. Thyroid studies (T3, T4, TSH and thyroid scan) were performed. Low level of T3 and T4, and high level of TSH were observed. Thyroid agenesis was found in thyroid scan examination. We detected thyroid agenesis which has been never reported in CdLs patients. We could not find any mutation in intron 1, exon 2, exon 10 and exon 22 of NIPBL gene. Further genetics examinations were necessary whether there is mutation in other locus.

Keywords

CDLS Mutation analysis Thyroid agenesis.

Maskoen, A. M., Laksono, B., Hajjah, R., Zada, A., Suciati, L. P., Fauziah, P. N., & Nataprawira, H. M. (2017). Cornelia de lange syndrome with thyroid agenesis of an indonesian patient. Cellular and Molecular Biology, 63(8), 93–94. https://doi.org/10.14715/cmb/2017.63.8.19

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References

Jackson L, Kline AD, Barr MA, Koch S. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 1993: 47: 940–6.
Russell KL, Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID. Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences. Am J Med Genet 2001; 104: 267–76.
McKenney RR, Elder FF, Garcia J, Northrup H. Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission. Am J Med Genet 1996; 66: 449–52.
Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet 2007: 145C: 248-60.
Pearce PM, and Pitt DB. Six cases of de Lange's syndrome; parental consanguinity in two. Med J Aust. 1967; 1: 502–6.
Opitz JM. The Brachmann-de Lange syndrome. Am J Med Genet. 1985;22:89–102.
Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, et al., EUROCAT Working Group. Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A 2008; 146A: 51–9.
Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, et al. Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet Part A 2010; 152A: 1641–53.
Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, et al. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet 1993; 47: 947-8.
Uzun H, Senses DA, Uluba M, Kocabay K. A newborn with Cornelia de Lange syndrome: a case report. Cases J 2008; 1: 329.
Su PH, Yu JS, Chen SJ, Chen JY. Identification of a novel mutation and polymorphic change in the NIPBL gene of subjects with Cornelia de Lange syndrome. Genes Genomics 2008; 30: 253-60.
Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, et al. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet 2010; 53: 378–82.
Bhuiyan ZA, Stewart H, Redeker EJ, Mannens MM, Hennekam RC. Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. Eur J Hum Genet 2007; 15: 505–8.

References

Jackson L, Kline AD, Barr MA, Koch S. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 1993: 47: 940–6.

Russell KL, Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID. Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences. Am J Med Genet 2001; 104: 267–76.

McKenney RR, Elder FF, Garcia J, Northrup H. Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission. Am J Med Genet 1996; 66: 449–52.

Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet 2007: 145C: 248-60.

Pearce PM, and Pitt DB. Six cases of de Lange's syndrome; parental consanguinity in two. Med J Aust. 1967; 1: 502–6.

Opitz JM. The Brachmann-de Lange syndrome. Am J Med Genet. 1985;22:89–102.

Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, et al., EUROCAT Working Group. Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A 2008; 146A: 51–9.

Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, et al. Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet Part A 2010; 152A: 1641–53.

Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, et al. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet 1993; 47: 947-8.

Uzun H, Senses DA, Uluba M, Kocabay K. A newborn with Cornelia de Lange syndrome: a case report. Cases J 2008; 1: 329.

Su PH, Yu JS, Chen SJ, Chen JY. Identification of a novel mutation and polymorphic change in the NIPBL gene of subjects with Cornelia de Lange syndrome. Genes Genomics 2008; 30: 253-60.

Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, et al. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet 2010; 53: 378–82.

Bhuiyan ZA, Stewart H, Redeker EJ, Mannens MM, Hennekam RC. Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. Eur J Hum Genet 2007; 15: 505–8.