A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome

Shah, Jhanvi; Patel, Harsh; Jain, Deepika; Sheth, Frenny; Sheth, Harsh

doi:10.1186/s12883-021-02500-5

Table 1 Genotype and phenotype of the present case and all reported males affected with Rett syndrome due to somatic mosaicism

From: A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome

		Case
		1	2	3	4	5	6	7	8	9	10	11	12
Reference		Clayton-Smith et al. 2000	Armstrong et al. 2001	Topcu et al. 2002	Kleefstra et al. 2004	Psoni et al. 2010	Pieras et al. 2011	Zhang et al. 2018			Schönewolf-Greulich et al. 2018		Present case
Age		6y	14y	12y	11y	14y	4y	4y 4 m	2y 7 m	2y 5 m	8y	9y	2y 7 m
Phenotype		Classical	Classical	Classical	Classical	Classical	Atypical	Rett like	Classical	Classical	Classical	Classical	Classical
Regression		Yes	Unknown	Yes	Yes	Yes	No	No	Yes	Yes	Yes	Yes	No
Main Criteria	Language & speech	Present	Unknown	None	None	Poor	None	Poor	Lost	Lost	Lost	None	None
	Hand skills	Poor	Unknown	Lost	Lost	Lost	None	Poor	Lost	Lost	Poor	Poor	Poor
	Stereotypic hand movements	Present	Unknown	Present	Present	Present	Present	None	Present	Present	Present	Present	Present
	Gait	Ataxic	Unknown	None	Lost	Present	Ataxic	Poor	None	Poor	Ataxic	Poor	Poor
Supportive Criteria	Breathing disturbance	Present	Unknown	Absent	Unknown	Unknown	Absent	Unknown	Unknown	Unknown	Present	Present	Present
	Bruxism	Present	Unknown	Present	Present	Unknown	Present	Unknown	Unknown	Unknown	Present	Present	Unknown
	Impaired sleep pattern	Absent	Unknown	Unknown	Present	Unknown	Present	Unknown	Unknown	Unknown	Present	Present	Unknown
	Abnormal muscle tone	Present	Unknown	Present	Present	Present	Present	Unknown	Unknown	Unknown	Present	Present	Absent
	Peripheral vasomotor disturbance	Present	Unknown	Present	Unknown	Absent	Unknown	Unknown	Unknown	Unknown	Present	Absent	Unknown
	Scoliosis/ kyphosis	Present	Unknown	Present	Unknown	Absent	Unknown	Unknown	Unknown	Unknown	Absent	Present	Absent
	Growth retardation	Present	Unknown	Present	Unknown	Absent	Unknown	Unknown	Unknown	Unknown	Present	Present	Absent
	Small cold hands and feet	Present	Unknown	Present	Present	Absent	Unknown	Unknown	Unknown	Unknown	Present	Present	Unknown
	Inappropriate laugh/ screening spells	Unknown	Unknown	Present	Present	Absent	Present	Unknown	Unknown	Unknown	Present	Absent	Present
	Diminished response to pain	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	Present	Present	Absent
	Intense eye communication	Unknown	Unknown	Unknown	Unknown	Absent	Present	Unknown	Unknown	Unknown	Absent	Absent	Unknown
Seizure		Present	Absent	Present	Present	Absent	Present	Absent	Absent	Absent	Absent	Present	Present
Seizure onset age		3y	NA	5y	2y 9 m	NA	2y	NA	NA	NA	NA	1y	1y 9 m
Additional manifestations		Nil	Nil	Hypospadias, cryptorchidism	Nil	Otitis media	Nil	Nil	Nil	Nil	Nil	Nil	Polydactyly
Autism		No	No	No	No	Yes	No	No	No	No	No	No	Yes
Genotype		c.241_242del (p.Gly81 Glnfs*9)	c.398G > A (p.Arg133His)	c.808C > T (p.Arg270*)	c.473C > T (p.Thr158Met)	c.316C > T (p.Arg106Trp)	c.360 T > G (p.Tyr120*)	c.317G > A (p.Arg106Gln)	c.316C > T (p.Arg106Trp)	c.353G > A (p.Gly118Val)	c.1308dup (p.Gln437Serfs*50)	c.808C > T (p.Arg270*)	c.538C > T (p.Arg180*)
Percentage of variant allele fraction		Unknown	Unknown	36%	~ 25%	Unknown	~ 10%	6.50%	26.32%	20.11%	9% (blood) and 24.8% (muscle biopsy)	37%	32%

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ISSN: 1471-2377

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