Beyond Acephalic Spermatozoa: The Complexity of Intracytoplasmic Sperm Injection Outcomes

Table 2

Mutation table of AS defects with reported intracytoplasmic sperm injection (ICSI) outcomes.

Gene	Mutation (HGVS nomenclature)	Mutation type	ICSI outcomes (sperm type)	Reference
SUN5	c.211 + 1 insGT^※	Frameshift	Good quality embryos, clinical pregnancy was obtained, live births (head-tail still joined sperm)	Zhu et al. [2]
	c.216G > A^※	Nonsense
	c.340G > A^※	Splicing		Shang et al. [33]
	c.381delA^※	Frameshift		Shang et al. [27]
	c.425+1G > A^※	Splicing
	c.475C > T^※	Nonsense
	c.485T > A^※	Missense
	c.781G > A^※	Missense
	c.824C > T^※	Missense
	c.829C > T^※	Nonsense
	c.851C > G^※	Nonsense
	c.1043A > T^※	Missense
	c.1066C > T^※	Missense
	p.(Leu143Serfs^∗30)^※	Frameshift
	c.1067G > A^※	Missense
PMFBP1	c.327T > A^※	Nonsense	Good quality embryos, clinical pregnancy was obtained, live births (head-tail sperm)	Sha et al. [11]
	c.1462C > T^※	Nonsense		Zhu et al. [10]
	c.2092delG^※	Frameshift
	c.2404C > T^※	Nonsense
	c.2561_2562del^※	Frameshift
	c.2725C > T^※	Nonsense
TSGA10	c.211del^※	Frameshift	Poor quality embryo and failed clinical pregnancy (NG)	Sha et al. [34]
BRDT	c.G2783A^#	Splicing	NG	Li et al. [26]
HOOK1	p.Q286R^※	Nonsense	Clinical pregnancy was obtained, live births in both animal and human studies (NG)	Chen et al. [12]

HGVS: human genome variation society. NG: not given. AS: acephalic spermatozoa. ^#Gain-of-function. ^※Loss-of-function.