Towards the genetic defect in MEGDEL syndrome: Four novel patients

Wortmann, S. B.; Schara, Ulrike; Rodenburg, Rjt; Brouwer, Apm De; Uçar, Sema Kalkan; Çöker, Mahmut; Barić, Ivo; Kluijtmans, Laj; Engelke, Ufh; Smeitink, J.A.M.; Wevers, R.A.; Morava, E.

doi:10.1055/s-0030-1265523

Cited by 3 publications

(5 citation statements)

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“…3-MGA screening seems to be helpful to identify even ‘atypical’ SERAC1 families as shown here. The 3-MGA levels observed in our index family fall within (the relatively wide) increased range of 3-MGA levels observed in MEGDEL patients (16–196 mmol/mol) 19. However, in contrast to the neuropaediatric work-up of complex neurological syndromes, 3-MGA screening is not done routinely in cHSP patients, in particular if not starting before teenage years.…”

Section: Discussionsupporting

confidence: 60%

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

et al. 2017

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Section: Discussionsupporting

confidence: 60%

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

et al. 2017

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“…She still has progressive cholestasis and is susceptible to high serum lactate after rehabilitation training and hypoglycemia with low ketone under starving conditions. These phenotypes are substantially different from the transient liver function abnormalities and hypoglycemia reported in the literature (6).…”

Section: Discussioncontrasting

confidence: 81%

Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome

Zhang

Wang³

et al. 2021

Front. Pediatr.

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MEGDEL syndrome and SATB2-associated syndrome (SAS) are both rare congenital disorders with poor prognoses caused by gene mutations. We present the case of a 2-day-old girl with an unexplained abnormal liver function, feeding problem, and dystonia. Using next-generation sequencing, we identified two novel mutations in SERAC1 and a mutation in SATB2. Now, she is 15 months old and has the characteristics of SAS, such as downslanting palpebral fissures and delayed primary dentition. Besides the typical phenotypes of MEGDEL syndrome, such as hypertonia, failure to thrive, deafness, and motor regression, she has progressive cholestasis and is prone to high serum lactate after rehabilitation training and hypoglycemia with low ketone under starving conditions. These phenotypes substantially differ from the transient liver function abnormalities and hypoglycemia reported in the literature.

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“…В общей сложности на данный момент опубликовано описание 48 случаев данного заболева-ния [7], 4 из которых -в арабских [2], а 27 -в румын-ских семьях [5,8].…”

Section: эпидемиологияunclassified

“…[6,7]. У всех пациентов выявляются выраженный лактат-ацидоз, гипераммониемия, во время кризов -гипераланиниемия и 3-метилглютаконовая ацидурия [4,5].…”

Section: клиническая картинаunclassified

“…Нарушение синтеза АТФ приводит к повреждению митохондрий, нарушению функций клеток, в том числе в миокарде, и возникно-вению сердечной недостаточности [2]. Недостаточность АТФ-синтазы, обусловленная мутациями в гене TMEM70 (OMIM 612418), -редкое наследственное заболевание, возникающее в результате нарушения работы дыхатель-ной цепи митохондрий [3][4][5]. Ген TMEM70, длиной 10 347 пар нуклеотидов, расположенный в хромосомной обла-сти 8q21.11, кодирует митохондриальный трансмем-бранный белок TMEM70, длиной 260 аминокислотных остатков, молекулярной массой 28 969 Да, играющий важную роль в биогенезе митохондриальной АТФазы.…”

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Mitochondrial Complex V (ATP-synthase) Deficiency Nuclear Type 2, Caused by Mutation in the TMEM70 Gene: the First Case in Russia

Журкова¹,

Вашакмадзе²,

Савостьянов³

et al. 2018

Pediatr. farmakol.

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Mitochondrial respiratory chain complex V deficiency, type 2 is a rare hereditary disease developing due to mutations in TMEM70 Недостаточность комплекса V дыхательной цепи митохондрий, тип 2, обусловленная мутациями в ядерном гено-ме -редкое наследственное заболевание, возникающее вследствие мутаций в гене TMEM70 (трансмембранного протеина 70). С использованием технологии массового параллельного секвенирования у пациента с особенно-стями фенотипа, синдромом некомпактного миокарда левого желудочка и врожденным пороком сердца впервые в России в гене

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Towards the genetic defect in MEGDEL syndrome: Four novel patients

Cited by 3 publications

References 0 publications

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome

Mitochondrial Complex V (ATP-synthase) Deficiency Nuclear Type 2, Caused by Mutation in the TMEM70 Gene: the First Case in Russia

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