Clinical and genetic characteristics of hypophosphatasia in Chinese children

Liu, Meijuan; Liu, Min; Liang, Xuejun; Wu, Di; Li, Wenjing; Su, Chang; Cao, Bingyan; Chen, Jiajia; Gong, Chunxiu

doi:10.1186/s13023-021-01798-1

Orphanet Journal of Rare Diseases

Table 2 ALPL gene mutations of Chinese children with HPP

From: Clinical and genetic characteristics of hypophosphatasia in Chinese children

Disease subtype	No	Status	Type	DNA	Protein	Exon/intron	Source	References
Perinatal lethal	1	Compound heterozygous	M	c.406C>T	p. Arg136Cys	E5	Father	[31]
			M	c.461C>T	p. Ala154Val	E5	Mother
	2	Compound heterozygous	F	c.650delTinsCTAA	p.217delValinsAlaLys	E7	Mother	[32]
			F	c.984_986delCTT	p. Phe328del	E9	Father
Infantile	3	NA	NA	NA	NA	NA	NA	PA-1
	4	Compound heterozygous	M	c.83A>G	p. Tyr28Cys	E3	NA	PA-2
			M	c.98C>T	p. Ala33Val	E3	NA
	5	Compound heterozygous	M	c.668G>A	p. Arg223Gln	E7	de novo	PA-3
			F	c.1101_1103delCTC	p. Ser368del	E10	Mother
	6	Compound heterozygous	F	c.1097_1099delCCT	p.366_367delThrSerinsThr	E10	Father	PA-4
			M	c.527C>T	p. Ala176Val	E6	Mother
	7	Compound heterozygous	M	c.98C>T	p. Ala33Val	E3	Mother	PA-5
			M	c.406C>T	p. Arg136Cys	E5	Father
	8	Compound heterozygous	M	c.98C>T	p. Ala33Val	E3	Father	PA-6
			F	c.1097_1099delCCT	p.366_367delThrSerinsThr	E10	Mother
	9	Homozygous	M	c.359G>C	p. Gly120Ala	E5	NA	[5]
	10	Compound heterozygous	F	c.228delG	p. Gln76Hisfs*46	E4	Mother	[33]
			M	c.407G>A	p. Arg136His	E5	Father
	11	NA	NA	NA	NA	NA	NA	[34]
	12	Compound heterozygous	M	c.814C>T	p. Arg272Cys	E7	Father	[35]
			F	c.1101_1103delCTC	p. Ser368del	E9	Mother
Childhood	13	Compound heterozygous	M	c.407G>A	p. Arg136His	E5	Father	PA-7
			M	c.802T>C	p. Phe268Leu	E8	Mother
	14	Compound heterozygous	M	c.212G>A	p. Arg71His	E4	Father	[5]
			M	c.571G>A	p. Glu191Lys	E6	Mother
	15	Compound heterozygous	M	c.203C>T	p. Thr68Met	E4	Mother	[5]
			M	c.571G>A	p. Glu191Lys	E6	Father
	16	Heterozygous	M	c. 1162T>C	p. Tyr388His	E10	Mother	[6]
	17	Heterozygous	F	c.412_413insC	p. Arg138Profs45x	E5	Mother	[6]
	18	Compound heterozygous	M	c.1183A>G	p. Ile395Val	E10	Father	[36]
			M	c.85T>C	p. Trp29Arg	E3	Mother
	19	Compound heterozygous	M	c.407G>A	p. Arg136His	E5	Father	[37]
			M	c.1166C>A	p. Thr389Asn	E10	Mother
	20	Compound heterozygous	M	c.331G>A	p. Ala111Thr	E5	Mother	[37]
			M	c.655A>G	p. Met219Val	E7	Father
	21	Homozygous	SJA	c.298-1G>A	–	IVS4	NA	[38]
	22	Heterozygous	M	c.251A>T	p. Glu84Val	E4	Mother	[39]
Odonto	23	Compound heterozygous	F	c.410delC	p. Arg138GlyfsTer27	E5	Mother	PA-8
			SJA	c.297 + 5G>A	–	IVS4	Father
	24	Heterozygous	M	c.346G>A	p. Ala116Thr	E5	Father	PA-9
	25	Compound heterozygous	M	c. 1162T>C	p. Tyr388His	E10	de novo	PA-10
			F	c. 1532insC	*p. Leu511Profs272**	E12	Mother
	26	Compound heterozygous	M	c.979T>C	p. Phe327Leu	E9	Mother	[5]
			F	c.1017dupG	p. His340Alafs	E10	Father
	27	Compound heterozygous	M	c.542C>T	p. Ser181Leu	E6	Mother	[40]
			M	c.1287G>T	p. Glu429Asp	E11	Father
	28	Compound heterozygous	M	c.422C>A	p. Thr141Asn	E5	NA	[6]
			M	c.1489T>A	p. Cys497Ser	E12	NA
	29	Compound heterozygous	M	c.422C>A	p. Thr141Asn	E5	NA	[6]
			M	c.1489T>A	p. Cys497Ser	E12	NA
	30	Compound heterozygous	M	c.406C>T	p. Arg136Cys	E5	NA	[6]
			M	c.407G>A	p. Arg136His	E5	NA
	31	Compound heterozygous	M	c.787T>C	p. Tyr263His	E7	Father and mother	[41]
			R	c.-92C>T	–	E2	Mother
	32	Compound heterozygous	M	c.787T>C	p. Tyr263His	E7	Father and mother	[41]
			R	c.-92C>T	–	E2	Mother
	33	Compound heterozygous	M	c.82T>G	p. Tyr28Asp	E3	Father	[37]
			M	c. 1162T>C	p. Tyr388His	E10	Mother

Bold type indicates the novel mutations identified in our present study
NA not available, M Missense, F Frameshift, SJA splice junction alteration

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ISSN: 1750-1172

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